Ataxia-telangiectasia with a 32 year survival. A clinicopathological report

J Neuropathol Exp Neurol. 1979 Nov;38(6):621-43. doi: 10.1097/00005072-197911000-00007.


The clinicalpathological findings in a 32-year old woman with ataxia-telangiectasia are presented. This is the oldest patient with this disease to be studied thoroughly clinically and at autopsy. Multiple small gliovascular malformations in the brain and spinal cord and telangiectasis of the liver were found. Other advanced lesions of ataxia-telangiectasia are illustrated. The vascular malformations of the central nervous system and liver are unique. The patient died of a malignant lymphoproliferative disorder and had five other malignant and benign neoplasms.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Astrocytes / ultrastructure
  • Ataxia Telangiectasia / genetics
  • Ataxia Telangiectasia / pathology*
  • Brain / pathology
  • Cerebral Arteries / pathology
  • Female
  • Humans
  • Intracranial Embolism and Thrombosis / pathology
  • Karyotyping
  • Nerve Degeneration
  • Nerve Fibers, Myelinated / ultrastructure
  • Neural Pathways / pathology
  • Neurons / ultrastructure
  • Spinal Cord / pathology